The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene
Arq. neuropsiquiatr
;
65(4a): 965-968, dez. 2007. ilus
Article
Dans Anglais
| LILACS
| ID: lil-470123
ABSTRACT
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.
RESUMO
Os autores apresentam a história da descoberta da ataxia espinocerebelar tipo 10 (AEC10) no Brasil, desde o primeiro relato em uma família com ancestrais portugueses com ataxia cerebelar pura, autossômica dominante, até a identificação de famílias sem ancestrais mexicanos. Essas famílias apresentam um fenótipo de AEC10, com ataxia cerebelar "pura", distinta daquele descrito nas famílias no México.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Ataxies spinocérébelleuses
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
Pays comme sujet:
Amérique du Sud
/
Brésil
/
Mexico
langue:
Anglais
Texte intégral:
Arq. neuropsiquiatr
Thème du journal:
Neurologie
/
Psychiatrie
Année:
2007
Type:
Article
Pays d'affiliation:
Brésil
/
États-Unis d'Amérique
Institution/Pays d'affiliation:
Federal University of Paraná/BR
/
Genetika Laboratory/BR
/
University of Texas Medical Branch/US
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